Canonical Allele Identifier: CA355382227

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137947-A-G
• MyVariant Identifiers: chr3:g.183855735A>G (hg19) ; chr3:g.184137947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137947A>G , CM000665.2:g.184137947A>G	GRCh38
NC_000003.11:g.183855735A>G , CM000665.1:g.183855735A>G	GRCh37
NC_000003.10:g.185338429A>G	NCBI36
NG_015826.1:g.7926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.579A>G
ENST00000468748.7:n.539A>G
ENST00000484154.2:n.1177A>G
ENST00000491008.6:n.1304A>G
ENST00000492226.2:n.553A>G
ENST00000492773.6:c.288A>G
ENST00000647636.1:c.556A>G	ENSP00000497505.1:p.Lys186Glu
ENST00000647909.1:c.580A>G	ENSP00000498164.1:p.Lys194Glu
ENST00000648145.1:c.324A>G
ENST00000648189.1:c.306A>G
ENST00000648256.1:c.505A>G	ENSP00000497356.1:p.Lys169Glu
ENST00000648314.1:c.556A>G	ENSP00000496920.1:p.Lys186Glu
ENST00000648599.1:c.556A>G	ENSP00000497159.1:p.Lys186Glu
ENST00000648630.1:c.550A>G	ENSP00000497887.1:p.Lys184Glu
ENST00000648682.1:c.556A>G	ENSP00000498185.1:p.Lys186Glu
ENST00000648882.1:c.*382A>G	ENSP00000497603.1:n.*382A>G
ENST00000648890.1:c.556A>G	ENSP00000497503.1:p.Lys186Glu
ENST00000648915.2:c.556A>G MANE Select	ENSP00000497160.1:p.Lys186Glu
ENST00000649545.1:c.290A>G
ENST00000649688.1:c.556A>G	ENSP00000497097.1:p.Lys186Glu
ENST00000649814.1:n.605A>G
ENST00000650270.1:c.423A>G
ENST00000273783.7:c.556A>G	ENSP00000273783.3:p.Lys186Glu
ENST00000432982.5:c.245+1272A>G
ENST00000444495.1:c.556A>G	ENSP00000409142.1:p.Lys186Glu
ENST00000468748.5:n.9A>G
ENST00000481054.5:n.557A>G
ENST00000491008.5:n.520A>G
ENST00000491144.5:n.996A>G
ENST00000498831.1:n.511A>G
NM_003907.2:c.556A>G	NP_003898.2:p.Lys186Glu
XR_924208.1:n.1507A>G
NM_003907.3:c.556A>G MANE Select	NP_003898.2:p.Lys186Glu
XM_011513266.3:c.-346A>G	XP_011511568.1:n.-346A>G
XR_001740352.2:n.919A>G
XR_001740353.2:n.919A>G
XR_924208.2:n.919A>G